A case report on primary hyperoxaluria type 1 in an infant

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dc.contributor.authorBhatt, JVen_US
dc.contributor.authorShah, KSen_US
dc.contributor.authorDesai, Pen_US
dc.contributor.authorPaliya, P.en_US
dc.date.accessioned2025-05-09T11:05:43Z
dc.date.available2025-05-09T11:05:43Z
dc.date.issued2024-10
dc.description.abstractAn alanine-glyoxylate aminotransferase (AGT) deficiency causes elevated oxalate levels in primary hyperoxaluria type 1 (PH1), a rare genetic disorder that can cause renal complications. We report the case of a 3-month-old male infant with respiratory distress, decreased urine output, and metabolic acidosis who was born to consanguineous parents. Bilateral nephrocalcinosis and severe metabolic disturbances were found during further examinations. Prompt identification and genetic validation for therapeutic interventions guided by PH1, such as peritoneal dialysis. The severity of PH1 was highlighted by difficulties maintaining renal function even after an initial improvement. To lessen the severe effects of PH1, this case highlights the significance of early diagnosis, genetic evaluation, and multidisciplinary management.en_US
dc.identifier.affiliationsDepartment of Paediatrics, Narendra Modi Medical College, Ahmedabad, Gujarat, Indiaen_US
dc.identifier.affiliationsDepartment of Paediatrics, Narendra Modi Medical College, Ahmedabad, Gujarat, Indiaen_US
dc.identifier.affiliationsDepartment of Paediatrics, Narendra Modi Medical College, Ahmedabad, Gujarat, Indiaen_US
dc.identifier.affiliationsDepartment of Paediatrics, Narendra Modi Medical College, Ahmedabad, Gujarat, Indiaen_US
dc.identifier.citationBhatt JV, Shah KS, Desai P, Paliya P.. A case report on primary hyperoxaluria type 1 in an infant . International Journal of Contemporary Pediatrics. 2024 Oct; 11(10): 1459-1463en_US
dc.identifier.issn2349-3283
dc.identifier.issn2349-3291
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/246322
dc.languageenen_US
dc.publisherMedip Academyen_US
dc.relation.issuenumber10en_US
dc.relation.volume11en_US
dc.source.urihttps://doi.org/10.18203/2349-3291.ijcp20242674en_US
dc.subjectPrimary hyperoxaluriaen_US
dc.subjectInfant presentationen_US
dc.subjectMetabolic acidosisen_US
dc.subjectGenetic diagnosisen_US
dc.titleA case report on primary hyperoxaluria type 1 in an infanten_US
dc.typeJournal Articleen_US
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